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Gene TSC1
Variant V497L
Impact List missense
Protein Effect unknown
Gene Variant Descriptions TSC1 V497L lies within the region of the Tsc1 protein that mediates interaction with WDR45B (UniProt.org). V497L has not been characterized in the scientific literature and therefore, its effect on Tsc1 protein function is unknown (PubMed, Oct 2024).
Associated Drug Resistance
Category Variants Paths

TSC1 mutant TSC1 V497L

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Transcript NM_000368.5
gDNA chr9:g.132906089C>G
cDNA c.1489G>C
Protein p.V497L
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
NM_001406600.1 chr9:g.132906086C>G c.1489G>C p.V497L RefSeq GRCh38/hg38
NM_001406605.1 chr9:g.132906089C>G c.1489G>C p.V497L RefSeq GRCh38/hg38
NM_001406604.1 chr9:g.132906086C>G c.1489G>C p.V497L RefSeq GRCh38/hg38
NM_001406597.1 chr9:g.132906086C>G c.1489G>C p.V497L RefSeq GRCh38/hg38
NM_001406603.1 chr9:g.132906086C>G c.1489G>C p.V497L RefSeq GRCh38/hg38
NM_001406602.1 chr9:g.132906089C>G c.1489G>C p.V497L RefSeq GRCh38/hg38
NM_001406598.1 chr9:g.132906086C>G c.1489G>C p.V497L RefSeq GRCh38/hg38
NM_001406608.1 chr9:g.132906086C>G c.1489G>C p.V497L RefSeq GRCh38/hg38
NM_000368.4 chr9:g.132906089C>G c.1489G>C p.V497L RefSeq GRCh38/hg38
XM_011518979.2 chr9:g.132906089C>G c.1489G>C p.V497L RefSeq GRCh38/hg38
NM_001406599.1 chr9:g.132906086C>G c.1489G>C p.V497L RefSeq GRCh38/hg38
NM_001406592.1 chr9:g.132906089C>G c.1489G>C p.V497L RefSeq GRCh38/hg38
XM_017015097.1 chr9:g.132906089C>G c.1489G>C p.V497L RefSeq GRCh38/hg38
NM_001162426.2 chr9:g.132906086C>G c.1489G>C p.V497L RefSeq GRCh38/hg38
NM_001406606.1 chr9:g.132906089C>G c.1489G>C p.V497L RefSeq GRCh38/hg38
NM_001406595.1 chr9:g.132906089C>G c.1489G>C p.V497L RefSeq GRCh38/hg38
NM_001406594.1 chr9:g.132906089C>G c.1489G>C p.V497L RefSeq GRCh38/hg38
XM_011518979.3 chr9:g.132906089C>G c.1489G>C p.V497L RefSeq GRCh38/hg38
XM_005272211.1 chr9:g.132906089C>G c.1489G>C p.V497L RefSeq GRCh38/hg38
NM_001406596.1 chr9:g.132906089C>G c.1489G>C p.V497L RefSeq GRCh38/hg38
XM_017015096.1 chr9:g.132906089C>G c.1489G>C p.V497L RefSeq GRCh38/hg38
XM_006717271.1 chr9:g.132906089C>G c.1489G>C p.V497L RefSeq GRCh38/hg38
NM_001406601.1 chr9:g.132906089C>G c.1489G>C p.V497L RefSeq GRCh38/hg38
NM_000368.5 chr9:g.132906089C>G c.1489G>C p.V497L RefSeq GRCh38/hg38
NM_001406593.1 chr9:g.132906089C>G c.1489G>C p.V497L RefSeq GRCh38/hg38
NM_001406609.1 chr9:g.132906086C>G c.1489G>C p.V497L RefSeq GRCh38/hg38
NM_001406607.1 chr9:g.132906089C>G c.1489G>C p.V497L RefSeq GRCh38/hg38

Filtering

  • Case insensitive filtering will display rows if any text in any cell matches the filter term
  • Use simple literal full or partial string matches
  • Separate multiple filter terms with a space. Any order may be used (i. e. a b c and c b a are equivalent )
  • Filtering will only apply to rows that are already loaded on the page. Filtering has no impact on query parameters.
  • Use quotes to match on a longer phrase with spaces (i.e. "mtor c1483f")

Sorting

  • Generally, the default sort order for tables is set to be first column ascending; however, specific tables may set a different default sort order.
  • Click on any column header arrows to sort by that column
  • Hold down the Shift key and click multiple columns to sort by more than one column. Be sure to set ascending or descending order for a given column before moving on to the next column.

Molecular Profile Protein Effect Treatment Approaches
TSC1 V497L unknown